Neonatal succinate-CoA ligase deficiency presented as mild methylmalonic aciduria: a case report / 中华围产医学杂志

To report a case of neonatal succinate-CoA ligase deficiency with mild methylmalonic aciduria caused by SUCLG1 compound heterozygous mutation. Our proband developed the disease at the 2nd day of life, manifested by vomiting and milk rejection. Blood gas analysis indicated metabolic acidosis and hyperlactacidemia. Laboratory tests showed mild hyperammonemia, mild elevation of serum aminotransferase and normal homocysteine. Imageology examination showed brain dysplasia and multiple cardiac malformations. Mild methylmalonic aciduria was suggested by blood acylcarnitines and urine organic acids analysis. Two novel mutations, c.40A>G (p.M14V) and a heterozygous deletion of exon 6 to 9, were identified by whole-exome sequencing in SUCLG1, which came from the mother and father, respectively. Metabolic acidosis turned better by volume expansion and acidosis correction, but lactic acidosis was persistent. Edema and respiratory failure occurred, after which the parent gave up treatment and the patient died after discharged from hospital. The mutations of SUCLG1 gene lead to succinate-CoA ligase deficiency and mitochondrial DNA depletion syndrome. There is no specific treatment for this disease. For infants with feeding difficulties, lactic acidosis and multiple organ damage, metabolic abnormality screening should be performed. Genetic analysis is the diagnostic method.

Research on the full-time model for healthcare social workers / 中华医院管理杂志

The paper introduced the present full-time practice of medical social workers in China, with in-depth analysis of the roadblocks encountered.The problems include but are not limited to multiple stakeholders without a healthy resources relationship network, lack of powerful government support in policy and resource orientation, absence of drivers for hospitals to deliver social service, immature social organizations, and poor capacity to link resources.Based on such, the authors explored the establishment of a development model for full-time medical social workers on a multiple cooperation platform, in such perspectives as the government, social worker organizations, hospitals, and third-party performance appraisal.

Anti-NMDAR-encephalitis in children / 国际儿科学杂志

Anti-N-methyl-D-aspartate receptor encephalitis (Anti-NMDAR-encephalitis) in children is a type of autoimmune encephalitis associated with NMDA receptor.Its etiology and clinical manifestations are specific in children.This disease is associated with teratoma more in adult than in children.However,its etiology is more associated with infection and heredity in children.The pathogenesis is that the anti-NMDAR-antibody can combine with NMDAR of neurons selectively and reversibly.The clinical manifestations include psychiatric syndrome,language,motor,sleep and autonomic nervous disorders.Tumor resection and immtmotherapy are chief treatments.This disorder is often misdiagnosed as it is rarely reported in children.It is valuable to make early diagnosis and treatment.This paper reviews the mechanism,clinical features,diagnosis and treatment of antiNMDAR-encephalitis of children.